Variable content of von Willebrand factor mutant monomer drives the phenotypic variability in a family with von Willebrand disease-Reference-Cited by-同舟云学术

Variable content of von Willebrand factor mutant monomer drives the phenotypic variability in a family with von Willebrand disease

Published:2015-07-09 Issue:2 Volume:126 Page:262-269
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Chen Junmei¹,Hinckley Jesse D.²,Haberichter Sandra³⁴,Jacobi Paula³,Montgomery Robert³,Flood Veronica H.³,Wong Randall⁵,Interlandi Gianluca⁶,Chung Dominic W.¹,López José A.¹⁷,Di Paola Jorge²

Affiliation:

1. Bloodworks Research Institute-Puget Sound Seattle, WA;

2. Department of Pediatrics and Human Genetics and Genomics Program, University of Colorado, Anschutz Medical Campus, Aurora, CO;

3. Blood Research Institute, Blood Center of Wisconsin and Department of Pediatrics, Milwaukee, WI;

4. Medical College of Wisconsin, Milwaukee, WI;

5. DNA Core, Barbara Davis Diabetes Center, University of Colorado Anschutz Medical Campus, Aurora, CO;

6. Department of Bioengineering, University of Washington, Seattle, WA; and

7. Departments of Biochemistry and Medicine, University of Washington, Seattle, WA

Abstract

Key Points VWD is characterized by variable expressivity, even within families with the same VWF mutation. The content of mutant monomers in the final multimeric structure may explain the observed variability.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/126/2/262/1390619/262.pdf

Reference31 articles.

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3. Human von Willebrand factor (vWF): isolation of complementary DNA (cDNA) clones and chromosomal localization.;Ginsburg;Science,1985

4. Gene deletions correlate with the development of alloantibodies in von Willebrand disease.;Shelton-Inloes;J Clin Invest,1987

5. Human von Willebrand factor gene and pseudogene: structural analysis and differentiation by polymerase chain reaction.;Mancuso;Biochemistry,1991

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